RPE65

Summary

Gene Symbol: RPE65
Description: retinal pigment epithelium-specific protein 65kDa
Alias: LCA2, RP20, mRPE65, rd12, sRPE65, RBP-binding membrane protein, all-trans-retinyl-palmitate hydrolase, p63, retinal pigment epithelium-specific 65 kDa protein, retinitis pigmentosa 20 (autosomal recessive), retinoid isomerohydrolase, retinol isomerase
Species: human

Top Publications

  1. pmc Rpe65 isomerase associates with membranes through an electrostatic interaction with acidic phospholipid headgroups
    Quan Yuan
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
    J Biol Chem 285:988-99. 2010
  2. pmc Deletion of GRK1 causes retina degeneration through a transducin-independent mechanism
    Jie Fan
    Department of Ophthalmology, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29412, USA
    J Neurosci 30:2496-503. 2010
  3. pmc Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis
    H Morimura
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:3088-93. 1998
  4. pmc Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial
    William W Hauswirth
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Hum Gene Ther 19:979-90. 2008
  5. ncbi Mutations in RPE65 cause Leber's congenital amaurosis
    F Marlhens
    Nat Genet 17:139-41. 1997
  6. doi The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis
    Richard G Weleber
    Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
    Invest Ophthalmol Vis Sci 52:292-302. 2011
  7. doi Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis
    Gandra Mamatha
    Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
    Ophthalmic Genet 29:73-8. 2008
  8. ncbi Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations
    Kholoud Al-Khayer
    Center for Genetic Eye Diseases, Cole Eye Institute, Cleaveland Clinic Foundation, Ohio 44195, USA
    Am J Ophthalmol 137:375-7. 2004
  9. pmc Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65
    Olga Nikolaeva
    Department of Medicine Endocrinology, Harold Hamm Oklahoma Diabetes Center, The University of Oklahoma Health Sciences Center, 941 Stanton L Young Blvd, BSEB302, Oklahoma City, OK 73104, United States
    Biochem Biophys Res Commun 391:1757-61. 2010
  10. ncbi Clinical course and visual function in a family with mutations in the RPE65 gene
    Joost Felius
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
    Arch Ophthalmol 120:55-61. 2002

Research Grants

  1. MODELS OF HEREDITY RETINAL DEGENERATION
    Gregory Acland; Fiscal Year: 2004
  2. Biochemical and Genetic Analysis of the Visual Cycle
    GABRIEL TRAVIS; Fiscal Year: 2007
  3. STUDIES OF RPE65
    Jian Xing Ma; Fiscal Year: 2004
  4. STUDIES OF RPE65
    Jian Xing Ma; Fiscal Year: 2010
  5. Cytoplasmic Reactivation of p53 Family Members
    Charles Walker; Fiscal Year: 2004
  6. Retinyl Ester Binding Proteins and the Visual Cycle
    Robert Rando; Fiscal Year: 2007
  7. P63/IGFBP3/BCL2 Control of Corneal Epithelial Homeostasis
    DANIELLE ROBERTSON; Fiscal Year: 2009
  8. P63/IGFBP3/BCL2 Control of Corneal Epithelial Homeostasis
    Danielle M Robertson; Fiscal Year: 2010
  9. Characterization of the Desmosome Protein Perp
    LAURA ATTARDI; Fiscal Year: 2007
  10. Mechanisms regulating prostate epithelium maintenance and regeneration
    Sabina Signoretti; Fiscal Year: 2010

Detail Information

Publications161 found, 100 shown here

  1. pmc Rpe65 isomerase associates with membranes through an electrostatic interaction with acidic phospholipid headgroups
    Quan Yuan
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
    J Biol Chem 285:988-99. 2010
    ..The critical isomerization step in this pathway is catalyzed by Rpe65. Rpe65 is strongly associated with membranes but contains no membrane-spanning segments...
  2. pmc Deletion of GRK1 causes retina degeneration through a transducin-independent mechanism
    Jie Fan
    Department of Ophthalmology, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29412, USA
    J Neurosci 30:2496-503. 2010
    b>Rpe65(-/-) mice are unable to produce 11-cis-retinal, the chromophore of visual pigments. Consequently, the pigment is present as the apoprotein opsin with a minute level of pigment containing 9-cis-retinal as chromophore...
  3. pmc Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis
    H Morimura
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:3088-93. 1998
    b>RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium...
  4. pmc Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial
    William W Hauswirth
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Hum Gene Ther 19:979-90. 2008
    ..One molecular form is caused by mutations in the RPE65 (retinal pigment epithelium-specific 65-kDa) gene...
  5. ncbi Mutations in RPE65 cause Leber's congenital amaurosis
    F Marlhens
    Nat Genet 17:139-41. 1997
  6. doi The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis
    Richard G Weleber
    Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
    Invest Ophthalmol Vis Sci 52:292-302. 2011
    To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65.
  7. doi Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis
    Gandra Mamatha
    Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
    Ophthalmic Genet 29:73-8. 2008
    To determine the frequency of pathogenic mutations in the gene encoding RPE65 in patients from India with Leber congenital amaurosis (LCA).
  8. ncbi Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations
    Kholoud Al-Khayer
    Center for Genetic Eye Diseases, Cole Eye Institute, Cleaveland Clinic Foundation, Ohio 44195, USA
    Am J Ophthalmol 137:375-7. 2004
    To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene.
  9. pmc Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65
    Olga Nikolaeva
    Department of Medicine Endocrinology, Harold Hamm Oklahoma Diabetes Center, The University of Oklahoma Health Sciences Center, 941 Stanton L Young Blvd, BSEB302, Oklahoma City, OK 73104, United States
    Biochem Biophys Res Commun 391:1757-61. 2010
    b>RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments...
  10. ncbi Clinical course and visual function in a family with mutations in the RPE65 gene
    Joost Felius
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
    Arch Ophthalmol 120:55-61. 2002
    To evaluate the phenotype of affected and carrier members of a family with mutations in RPE65 (a retinal pigment epithelium gene).
  11. ncbi Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
    F Marlhens
    Laboratoire de Neurobiologie de l audition, Plasticité Synaptique, Hopital Gui de Chauliac, Montpellier, France
    Eur J Hum Genet 6:527-31. 1998
    ..Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-..
  12. ncbi Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
    C P Hamel
    Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 268:15751-7. 1993
    ..microsomal membranes of the vertebrate retinal pigment epithelium (RPE) contain an RPE-specific 65-kDa protein, RPE65, which bears the determinant recognized by the strictly tissue-specific monoclonal antibody RPE9, and which is ..
  13. ncbi Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    S M Gu
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Nat Genet 17:194-7. 1997
    ..The RPE expresses a tissue-specific and evolutionarily highly conserved 61 kD protein (RPE65) present at high levels in vivo...
  14. ncbi Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene
    Leila el Matri
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
    Graefes Arch Clin Exp Ophthalmol 244:1104-12. 2006
    ..To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD)...
  15. pmc Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA
    Am J Hum Genet 70:224-9. 2002
    ..We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14...
  16. ncbi RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases
    Biju Joseph
    Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India
    J Genet 81:19-23. 2002
    We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients...
  17. ncbi Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium
    A Nicoletti
    Department of Biological Chemistry, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 4:641-9. 1995
    The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific...
  18. ncbi Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Invest Ophthalmol Vis Sci 48:4284-90. 2007
    ..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
  19. ncbi Mutation analysis of 3 genes in patients with Leber congenital amaurosis
    A J Lotery
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
    Arch Ophthalmol 118:538-43. 2000
    To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA).
  20. ncbi Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity
    Yusuke Takahashi
    Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    J Biol Chem 281:21820-6. 2006
    b>RPE65 is the isomerohydrolase in the retinoid visual cycle essential for recycling of 11-cis retinal, the chromophore for visual pigments in both rod and cone photoreceptors...
  21. doi Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa
    K Guerin
    Vision Science, University of California, Berkeley, CA 94720, USA
    Exp Eye Res 87:197-207. 2008
    ..in rhodopsin (S334ter); and a mouse model of recessive disease (rd12) caused by a PTC in the retinoid isomerase Rpe65. Initial luciferase reporter assays were undertaken to measure the efficiency of gentamicin-induced read-through ..
  22. pmc Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
    Geoffrey K Aguirre
    Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
    PLoS Med 4:e230. 2007
    b>RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA)...
  23. ncbi Acute radiolabeling of retinoids in eye tissues of normal and rpe65-deficient mice
    Nasser M Qtaishat
    Lions of Illinois Eye Research Institute, Department of Ophthalmology and Visual Sciences, College of Medicine, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Invest Ophthalmol Vis Sci 44:1435-46. 2003
    Mice with a targeted disruption of the gene encoding RPE65, a protein ordinarily highly expressed in the retinal pigment epithelium (RPE), accumulate abnormally high levels of all-trans retinyl ester in the RPE and exhibit very little 11-..
  24. pmc Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice
    Pascal Escher
    Institute for Research in Ophthalmology, Sion, Switzerland
    Mol Vis 14:2126-35. 2008
    ..and CD44 antigen (CD44) has been observed during retinal degeneration in mice with a targeted disruption of the Rpe65 gene (Rpe65-/- mouse)...
  25. pmc Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice
    Corinne Kostic
    Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
    PLoS ONE 6:e16588. 2011
    ..Using the Rpe65(R91W/R91W) mouse, which carries a mutation in the Rpe65 gene leading to progressive photoreceptor degeneration in ..
  26. ncbi Dominant negative p63 isoform expression in head and neck squamous cell carcinoma
    Joseph C Sniezek
    Department of Otolaryngology Head and Neck Surgery, Tripler Army Medical Center, 1 Jarrett White Road, Honolulu, HI 96859 5000, USA
    Laryngoscope 114:2063-72. 2004
    b>p63, a member of the p53 family of genes, is vital for normal epithelial development and may play a critical role in epithelial tumor formation...
  27. pmc Reconstruction of ionic currents in a molluscan photoreceptor
    M Sakakibara
    Department of Biological Science and Technology, School of High Tecnology for Human Welfare, Tokai University, Shizuoka, Japan
    Biophys J 65:519-27. 1993
    ..Based on these reconstructions of ionic currents, learning-induced enhancement of the long lasting depolarization (LLD) of the photoreceptor'slight response was shown to arise from progressive inactivation of /A, lca2+ -K+, and lCa2+.
  28. doi Giant cell tumor of bone express p63
    Brendan C Dickson
    Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada
    Mod Pathol 21:369-75. 2008
    b>p63 contributes to skeletal development and tumor formation; however, little is known regarding its activity in the context of bone and soft tissue neoplasms...
  29. ncbi Comparison of the basal cell-specific markers, 34betaE12 and p63, in the diagnosis of prostate cancer
    Rajal B Shah
    Deparment of Pathology and Urology, University of Michigan School of Medicine and Comprenhensive Cancer Center, Ann Arbor, Michigan 48109, USA
    Am J Surg Pathol 26:1161-8. 2002
    ..A recently identified basal cell marker p63, a p53 homologue, stains basal cell nuclei but not secretory cells...
  30. ncbi Expression of p53-related protein p63 in the gastrointestinal tract and in esophageal metaplastic and neoplastic disorders
    J N Glickman
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Hum Pathol 32:1157-65. 2001
    b>p63 is a p53-related DNA-binding protein that helps regulate differentiation and proliferation in epithelial progenitor cells. Its expression has never been evaluated in the human gastrointestinal tract...
  31. ncbi Immunophenotypic overlap between adenoid cystic carcinoma and collagenous spherulosis of the breast: potential diagnostic pitfalls using myoepithelial markers
    Joseph T Rabban
    Department of Pathology, University of California, San Francisco, CA 94143, USA
    Mod Pathol 19:1351-7. 2006
    ..The diagnosis may be even more challenging in needle core biopsies. Immunohistochemical expression of p63 and c-kit distinguishes adenoid cystic carcinoma from invasive cribriform carcinoma and ductal carcinoma in situ...
  32. ncbi Assessment of p63 expression in the salivary gland neoplasms adenoid cystic carcinoma, polymorphous low-grade adenocarcinoma, and basal cell and canalicular adenomas
    Paul C Edwards
    Department of Dental Medicine, Division of Oral Pathology, Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 97:613-9. 2004
    The purpose of this study was to determine the extent of p63 immunoreactivity in the malignant salivary gland neoplasms adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA) and to compare this to the expression ..
  33. doi Gene expression profiling identifies p63 as a diagnostic marker for giant cell tumor of the bone
    Cheng Han Lee
    Department of Pathology, Stanford University, Stanford, CA, USA
    Mod Pathol 21:531-9. 2008
    ..types, and significance analysis of microarray identified several genes including TP73L (encoding the p63 protein) that are significantly highly expressed in GCTOB relative to these other tumors...
  34. ncbi Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog
    Kristina Narfstrom
    Vision Science Group, Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri Columbia, Columbia, Missouri 65211, USA
    Invest Ophthalmol Vis Sci 44:1663-72. 2003
    To assess the efficacy of AAV-mediated gene therapy to restore vision in a large number of RPE65(-/-) dogs and to determine whether systemic and local side effects are caused by the treatment.
  35. doi The use of p63 as an effective immunomarker in the diagnosis of pulmonary squamous cell carcinomas on de-stained bronchial lavage cytological smears
    M Uke
    Division of Cytology, Tata Memorial Hospital, Mumbai, India
    Cytopathology 21:56-63. 2010
    ..Lately, p63 antibody has been used for distinguishing squamous cell carcinoma from SCLC and adenocarcinoma...
  36. pmc Expression of p63 in anaplastic large cell lymphoma but not in classical Hodgkin's lymphoma
    Gabriela Gualco
    Consultoria em Patologia, 18602 010 Botucatu, Sao Paulo, Brazil
    Hum Pathol 39:1505-10. 2008
    Immunohistochemical determination of p63 protein is frequently used in the pathologic diagnosis of nonhematological solid tumors...
  37. doi An immunohistochemical study of cervical neuroendocrine carcinomas: Neoplasms that are commonly TTF1 positive and which may express CK20 and P63
    W Glenn McCluggage
    Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland
    Am J Surg Pathol 34:525-32. 2010
    ..Cases were stained with AE1/3, chromogranin, CD56, synaptophysin, PGP9.5, TTF1, p16, p63, CK7, CK20, neurofilament, and CD99...
  38. doi S-opsin protein is incompletely modified during N-glycan processing in Rpe65(-/-) mice
    Kota Sato
    Department of Biochemistry and Biotechnology, Division of Cell Technology, Faculty of Agriculture and Life Science, Hirosaki University, 3 Bunkyo cho, Aomori 036 8561, Japan
    Exp Eye Res 91:54-62. 2010
    Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a key enzyme for the visual cycle in the eye. Rpe65(-/-) mice lack 11-cis-retinal, and show early cone degeneration and mislocalization of cone opsins...
  39. ncbi Identification of a KRAB-zinc finger protein binding to the Rpe65 gene promoter
    Zhongjian Lu
    Laboratory of Retinal Cell and Molecular Biology, National Eye Institute NIH, 7 Memorial Drive, Bethesda, MD 20892, USA
    Curr Eye Res 31:457-66. 2006
    We wish to identify transcriptional factors involved in regulation binding to the proximal promoter region of the RPE65 gene that confers RPE-specific expression.
  40. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H van Bokhoven
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 69:481-92. 2001
    b>p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM)...
  41. pmc Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration
    Séverine Hamann
    IRO, Institute for Research in Ophthalmology, Sion, Switzerland
    PLoS ONE 4:e6616. 2009
    Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages...
  42. ncbi p63 expression in normal skin and usual cutaneous carcinomas
    Jorge S Reis-Filho
    IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Portugal
    J Cutan Pathol 29:517-23. 2002
    b>p63 is a p53 homologue that is mapped to chromosome 3q27. This gene encodes six different isoforms, which have either transactivating or dominant negative effects on p53-reporter genes...
  43. pmc Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
    L L Barrow
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    J Med Genet 39:559-66. 2002
    ..EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families...
  44. pmc Claudin-1 is a p63 target gene with a crucial role in epithelial development
    Teresa Lopardo
    Department of Biomolecular Sciences and Biotechnology, University of Milan, Milan, Italy
    PLoS ONE 3:e2715. 2008
    ..b>p63 is a transcription factor essential for proliferation of stem cells and for stratification in epithelia, mutated in ..
  45. ncbi Immunohistochemical detection of GLUT1, p63 and phosphorylated histone H1 in head and neck squamous intraepithelial neoplasia: evidence for aberrations in hypoxia-related, cell cycle- and stem-cell-regulatory pathways
    D E Burstein
    Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Histopathology 48:708-16. 2006
    ..Detection and grading of early squamous intraepithelial neoplasia may at times be problematic. The aim of this study was to examine the ability of immunomarkers GLUT1, phospho-histone H1 and p63 to detect such early lesions.
  46. ncbi Downregulation of p63 upon exposure to bile salts and acid in normal and cancer esophageal cells in culture
    Sabine Roman
    Digestive Physiology, Pavillon H, Hopital Edouard Herriot, Place d Arsonval, 69437 Lyon Cedex 03, France
    Am J Physiol Gastrointest Liver Physiol 293:G45-53. 2007
    b>p63 is a member of the p53 protein family that regulates differentiation and morphogenesis in epithelial tissues and is required for the formation of squamous epithelia...
  47. ncbi P63 and cytokeratin8/18 expression in breast, atypical ductal hyperplasia, ductal carcinoma in situ and invasive duct carcinoma
    Maha M Shamloula
    The Department of Pathology, Faculty of Medicine, Tanta University
    J Egypt Natl Canc Inst 19:202-10. 2007
    Background and Purpose : The pattern and distribution of p63 expression as a myoepithelial/basal stem cell marker can be different between atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (..
  48. doi Immunohistochemical detection of XIAP and p63 in adenomatous hyperplasia, atypical adenomatous hyperplasia, bronchioloalveolar carcinoma and well-differentiated adenocarcinoma
    Maoxin Wu
    1Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Mod Pathol 21:553-8. 2008
    ..inhibitor of apoptosis protein (XIAP), the most potent of the inhibitor of apoptosis protein (IAP) family, and p63, a marker of bronchial reserve cells (BRC) and squamous cells, in these entities...
  49. doi Partial atrophy on prostate needle biopsy cores: a morphologic and immunohistochemical study
    Wenle Wang
    Department of Pathology, The John Hopkins Medical Institutions, Baltimore, MD 21231, USA
    Am J Surg Pathol 32:851-7. 2008
    ..sent to our consultation service in 2006 from a single institution, which frequently uses a triple cocktail stain [p63, high molecular weight cytokeratin (HMWCK), alpha-methyl acyl-Coa racemase (AMACR)]...
  50. ncbi Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium
    M L Katz
    University of Missouri School of Medicine, Mason Eye Institute, Columbia 65212, USA
    Invest Ophthalmol Vis Sci 42:3023-30. 2001
    ..In mice without a functional Rpe65 gene, isomerization of all-trans- to 11-cis-retinol is blocked...
  51. pmc Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa
    Nan Kai Wang
    Department of Ophthalmology, Columbia University, New York City, NY, USA
    Transplantation 89:911-9. 2010
    To study whether C57BL/6J-Tyr/J (C2J) mouse embryonic stem (ES) cells can differentiate into retinal pigment epithelial (RPE) cells in vitro and then restore retinal function in a model for retinitis pigmentosa: Rpe65/Rpe65 C57BL6 mice.
  52. ncbi Expression of p63 in conjunctival intraepithelial neoplasia and squamous cell carcinoma
    Claudia Auw-Haedrich
    Eye Hospital, Albert Ludwigs University, 79106 Freiburg, Germany
    Graefes Arch Clin Exp Ophthalmol 244:96-103. 2006
    b>p63 is a homologue of the tumour suppressor gene p53, which is expressed in human basal squamous epithelium...
  53. ncbi Inhibition of epidermal growth factor receptor signaling decreases p63 expression in head and neck squamous carcinoma cells
    Keith E Matheny
    Vanderbilt Bill Wilkerson Department of Otolaryngology Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Laryngoscope 113:936-9. 2003
    Both the epidermal growth factor receptor (EGFR) and the p53 homologue p63 are overexpressed in a significant number of cases of head and neck squamous cell carcinoma (HNSCC)...
  54. pmc p63 promotes cell survival through fatty acid synthase
    Venkata Sabbisetti
    Department of Pathology, Brigham and Women s Hospital, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
    PLoS ONE 4:e5877. 2009
    There is increasing evidence that p63, and specifically DeltaNp63, plays a central role in both development and tumorigenesis by promoting epithelial cell survival...
  55. ncbi Expression of p63 differs in peritoneal endometriosis, endometriomas, adenomyosis, rectovaginal septum endometriosis, and abdominal wall endometriosis
    Omero B Poli Neto
    Department of Surgery, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil
    Arch Pathol Lab Med 131:1099-102. 2007
    ..One protein that plays an important role in regulating epithelial proliferation and differentiation is the 63-kDa membrane protein (p63), which is also a marker of basal and reserve cells in the female genital tract.
  56. ncbi Cytology applications of p63 and TTF-1 immunostaining in differential diagnosis of lung cancers
    Maoxin Wu
    Division of Cytopathology, Department of Pathology, Mount Sinai School of Medicine, New York, New York, USA
    Diagn Cytopathol 33:223-7. 2005
    ..We have demonstrated the role of p63 and thyroid transcription factor-1 (TTF-1) in the differential diagnosis of poorly differentiated squamous-cell ..
  57. ncbi Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
    Ji Jing Pang
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Mol Ther 13:565-72. 2006
    Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a protein responsible for isomerization of all-trans-retinaldehyde to its photoactive 11-cis-retinaldehyde and is essential for the visual cycle...
  58. doi Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects
    Nadia Lo Iacono
    Dulbecco Telethon Institute, Molecular Biotechnology Center, University of Torino, Via Nizza 52, Torino, 10126, Italy
    Development 135:1377-88. 2008
    ..SHFM-IV and Ectrodactyly-Ectodermal dysplasia-Cleft lip (EEC) are caused by mutations in p63, an ectoderm-specific p53-related transcription factor...
  59. ncbi [Detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer]
    Tao Yu
    Department of Urology, Union Hospital Affiliated to Fujian Medical University, Fuzhou, Fujian 350001, China
    Zhonghua Nan Ke Xue 13:222-5. 2007
    To investigate the value of detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer (PCa).
  60. ncbi p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue
    Bonnie J Ching
    Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
    Int J Mol Med 26:861-7. 2010
    ..Several lines of evidence implicate genetic factors in the formation of BEEC. Among them a murine p63+/+ knockout model showed the full picture of classic exstrophy of the bladder and other urogenital defects within ..
  61. ncbi Diagnostic utility of immunohistochemical staining for p63, a sensitive marker of prostatic basal cells
    Michael H Weinstein
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Mod Pathol 15:1302-8. 2002
    ..Thus, a second method of identifying basal cells might prove useful. Selective expression of p63, a homologue of p53, has been demonstrated in prostatic basal cells...
  62. ncbi Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging
    Baerbel Rohrer
    Department of Ophthalmology Medical University of South Carolina, 167 Ashley Avenue, Charleston, SC 29425, USA
    Invest Ophthalmol Vis Sci 44:310-5. 2003
    b>RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy...
  63. ncbi Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
    Birgit Lorenz
    Department of Paediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Germany
    Ophthalmology 111:1585-94. 2004
    ..Alteration in autofluorescence reflects changes in lipofuscin content of the RPE. Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin, due to a defect in all-trans retinol isomerization ..
  64. ncbi Expression of the p63 and Notch signaling systems in rat testes during postnatal development: comparison with their expression levels in the epididymis and vas deferens
    Tetsuo Hayashi
    Department of Urology, Saitama Medical Center, Saitama Medical School, 1981 Tsujido, Kamoda, Kawagoe, Saitama 350 8550, Japan
    J Androl 25:692-8. 2004
    ..A member of the p53 family of genes, p63, is highly expressed in the basal layers of epithelial tissues and plays a key role in maintaining their cell ..
  65. pmc p53FamTaG: a database resource of human p53, p63 and p73 direct target genes combining in silico prediction and microarray data
    Elisabetta Sbisà
    Istituto di Tecnologie Biomediche Sede di Bari, CNR, Via Amendola, 122 D 70126 Bari, Italy
    BMC Bioinformatics 8:S20. 2007
    The p53 gene family consists of the three genes p53, p63 and p73, which have polyhedral non-overlapping functions in pivotal cellular processes such as DNA synthesis and repair, growth arrest, apoptosis, genome stability, angiogenesis, ..
  66. pmc Quantitative mapping of ion channel regulation by visual cycle activity in rodent photoreceptors in vivo
    Bruce A Berkowitz
    Department of Anatomy and Cell Biology, Wayne State University, Detroit, Michigan 48201, USA
    Invest Ophthalmol Vis Sci 50:1880-5. 2009
    ..To test the hypothesis that the extent of outer retina uptake of manganese, measured noninvasively with manganese-enhanced MRI (MEMRI), is a quantitative biomarker of photoreceptor ion channel regulation by visual cycle activity...
  67. ncbi Origin of the vertebrate visual cycle: III. Distinct distribution of RPE65 and beta-carotene 15,15'-monooxygenase homologues in Ciona intestinalis
    Noriko Takimoto
    Department of Life Science, Graduate School of Life Science, University of Hyogo, 3 2 1 Kouto, Kamigori, Ako gun, Hyogo 678 1297, Japan
    Photochem Photobiol 82:1468-74. 2006
    ..In the present study, we investigated the possible role and evolutionary origin of the BCO/RPE65 family in the visual cycle by analyzing Ci-BCO localization by immunohistochemistry and by identifying a novel ..
  68. ncbi p63 expression in benign and malignant breast lesions
    D Stefanou
    Department of Pathology, University of Ioannina Medical School, Ioannina, Greece
    Histol Histopathol 19:465-71. 2004
    The p63 gene encodes six protein isoforms. The transactivating isoforms have similar actions with p53, while the N-isoforms inhibit transcription activation by p53 and transactivating isoforms...
  69. ncbi Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant
    A Bellomaria
    Dipartimento di Scienze e Tecnologie Chimiche, University of Rome Tor Vergata, Italy
    Cell Cycle 9:3730-9. 2010
    The E3 ubiquitin ligase Itch mediates the degradation of the p63 protein. Itch contains four WW domains which are pivotal for the substrate recognition process...
  70. doi Cone outer segment morphology and cone function in the Rpe65-/- Nrl-/- mouse retina are amenable to retinoid replacement
    Kannan Kunchithapautham
    Department of Neurosciences, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    Invest Ophthalmol Vis Sci 50:4858-64. 2009
    b>RPE65, a major retinal pigment epithelium protein, is essential in generating 11-cis retinal, the chromophore for all opsins. Without chromophore, cone opsins are mislocalized and cones degenerate rapidly (e.g., Rpe65(-/-) mouse)...
  71. pmc Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle
    T Michael Redmond
    Laboratory of Retinal Cell and Molecular Biology and Biological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 0706, USA
    Proc Natl Acad Sci U S A 102:13658-63. 2005
    b>RPE65 is essential for isomerization of vitamin A to the visual chromophore...
  72. ncbi Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect
    G D Aguirre
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 6401, USA
    Mol Vis 4:23. 1998
    To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the ..
  73. pmc Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis
    Xia Li
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, People s Republic of China
    Invest Ophthalmol Vis Sci 52:7-15. 2011
    b>RPE65 function is necessary in the retinal pigment epithelium (RPE) to generate chromophore for all opsins. Its absence results in vision loss and rapid cone degeneration...
  74. doi Increased expression of p63 and survivin in cholesteatomas
    H R Park
    Department of Pathology, College of Medicine, Hallym University Sacred Heart Hospital, 896 Pyungchon Dong, Anyang, Korea
    Acta Otolaryngol 129:268-72. 2009
    This study showed increased expression of p63 and survivin in cholesteatoma. Our finding indicates a putative role of p63 and survivin in the development of certain cholesteatomas.
  75. ncbi Reassessment of the subcellular localization of p63
    A Schweizer
    Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    J Cell Sci 108:2477-85. 1995
    b>p63 is a type II integral membrane protein that has previously been suggested to be a resident protein of a membrane network interposed between the ER and the Golgi apparatus...
  76. ncbi Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Gene Ther 17:845-58. 2006
    ..Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. LCA caused by RPE65 mutations has been studied in animal models and vision has been restored by subretinal delivery of AAV-RPE65 ..
  77. doi The expression and diagnostic utility of p63 in the female genital tract
    Oisin Houghton
    Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland
    Adv Anat Pathol 16:316-21. 2009
    b>p63 plays a key role in epithelial development in various organs, being expressed in myoepithelial cells and in basal cells of stratified epithelia...
  78. ncbi Binding of RPE65 fragments to lipid monolayers and identification of its partners by glutathione S-transferase pull-down assays
    Eric Trudel
    Unité de recherche en ophtalmologie, Universite Laval, Quebec, Quebec, Canada G1V 4G2
    Biochemistry 45:3337-47. 2006
    b>RPE65 is the major component of the retinal pigment epithelium (RPE) microsomal membrane, and it plays a critical role in the binding of retinoids involved in the visual cycle...
  79. ncbi Expression profiles of p53, p63, and p73 in benign salivary gland tumors
    Anette Weber
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University of Leipzig, Germany
    Virchows Arch 441:428-36. 2002
    ..protein p53 has recently been shown to belong to a family that includes two structurally related proteins, p63 and p73...
  80. ncbi p63: a novel myoepithelial cell marker in canine mammary tissues
    A Gama
    Department of Pathology and Veterinary Clinics, University of Trás os Montes e Alro Douro, Vila Real, Portugal
    Vet Pathol 40:412-20. 2003
    ..b>p63, a recently characterized p53 homologue, is consistently expressed in myoepithelial cells of the human breast; ..
  81. doi Immunohistochemical expression of p63, p53 in urinary bladder carcinoma
    Ali Koyuncuer
    Department of Pathology, Goztepe Research and Training Hospital, Istanbul, Turkey
    Indian J Pathol Microbiol 56:10-5. 2013
    ..Urothelial carcinomas (UC) is of the most common cancers urinary bladder...
  82. pmc Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
    Fei Xu
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
    Mol Vis 18:744-50. 2012
    Retinal pigment epithelium-specific protein 65 kDa (RPE65) plays an essential role in vitamin A metabolism necessary for synthesizing the visual pigment 11-cis-retinal chromophore...
  83. doi Characterization of specific p63 and p63-N-terminal isoform antibodies and their application for immunohistochemistry
    Marta Nekulova
    Regional Centre for Applied Molecular Oncology, Masaryk Memorial Cancer Institute, Zluty kopec 7, 656 53 Brno, Czech Republic
    Virchows Arch 463:415-25. 2013
    ..Immunohistochemistry for p63 has clinical value for certain tumour types, but investigations have been hampered by a lack of well characterized ..
  84. pmc p63-expressing cells are the stem cells of developing prostate, bladder, and colorectal epithelia
    Jean Christophe Pignon
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 110:8105-10. 2013
    The tumor protein p63 (p63), and more specifically the NH2-terminal truncated (ΔN) p63 isoform, is a marker of basal epithelial cells and is required for normal development of several epithelial tissues, including the bladder and ..
  85. doi p40 (ΔNp63) and keratin 34βE12 provide greater diagnostic accuracy than p63 in the evaluation of small cell lung carcinoma in small biopsy samples
    Kelly J Butnor
    The University of Vermont Fletcher Allen Health Care, Burlington, VT 05401, USA
    Hum Pathol 44:1479-86. 2013
    The use of p63 has been advocated for separating small cell lung carcinoma from poorly differentiated non-small cell lung carcinoma, in particular, squamous cell lung carcinoma...
  86. doi p63, CK7, PAX8 and INI-1: an optimal immunohistochemical panel to distinguish poorly differentiated urothelial cell carcinoma from high-grade tumours of the renal collecting system
    Jason C Carvalho
    Department of Pathology, University of Michigan Medical Center, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0602, USA
    Histopathology 60:597-608. 2012
    ..Accurate classification, especially the distinction of UC from RCC, is critical, as therapeutic approaches differ...
  87. doi Role of CD10, wide-spectrum keratin, p63, and podoplanin in the distinction of epithelioid and spindle cell tumors of the skin: an immunohistochemical study of 81 cases
    J Noelle Buonaccorsi
    Department of Dermatopathology and the Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Am J Dermatopathol 34:404-11. 2012
    ..We evaluated the utility of a battery of immunohistochemical markers, including podoplanin (D2-40), CD10, p63, and wide-spectrum cytokeratin, for distinguishing cutaneous epithelioid and spindle cell tumors...
  88. ncbi p63 cytoplasmic aberrance is associated with high prostate cancer stem cell expression
    Paranita Ferronika
    Department of Pathology, Faculty of Medicine, Gadjah Mada University, Indonesia
    Asian Pac J Cancer Prev 13:1943-8. 2012
    ..stem cell or reserve cell populations in several epithelia including prostate has been shown to be regulated by p63 and alteration of p63 expression is considered to have an oncogenic role in prostate cancer...
  89. pmc Structure and kinetic stability of the p63 tetramerization domain
    Eviatar Natan
    Medical Research Council Laboratory of Molecular Biology, Hills Road, Cambridge CB2 0QH, UK
    J Mol Biol 415:503-13. 2012
    The p53 family of transcription factors--comprising p53, p63 and p73--plays an important role in tumor prevention and development...
  90. pmc Putative function of TAP63α during endochondral bone formation
    Feifei Li
    Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL 60612, USA
    Gene 495:95-103. 2012
    b>P63, a member of the P53 tumor suppressor family, is known to play important functions in cancer and development...
  91. doi Maspin, p53, p63, and Ki-67 in epithelial lesions of the tongue: from hyperplasia through dysplasia to carcinoma
    Marilena Vered
    Department of Oral Pathology and Oral Medicine, School of Dental Medicine, Tel Aviv University, Tel Aviv, Israel
    J Oral Pathol Med 38:314-20. 2009
    ..hyperplasia (HP), mild dysplasia (MD), moderate-to-severe dysplasia (MSD) and squamous cell carcinoma (SCC)] was investigated and correlated to the expression of maspin-regulating factors p53 and p63, and the proliferation marker Ki-67.
  92. pmc Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 50:2368-75. 2009
    To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations.
  93. ncbi Abnormal re-epithelialization and lung remodeling in idiopathic pulmonary fibrosis: the role of deltaN-p63
    Marco Chilosi
    Department of Pathology, University of Verona, Verona, Italy
    Lab Invest 82:1335-45. 2002
    Products of the p63 gene, a recently described member of the p53 family, are constitutively expressed in the basal cells of human bronchi and bronchioli...
  94. pmc Evaluation of 9-cis-retinyl acetate therapy in Rpe65-/- mice
    Tadao Maeda
    Departments of Pharmacology
    Invest Ophthalmol Vis Sci 50:4368-78. 2009
    Mice lacking retinal pigment epithelium-specific 65-kDa protein (RPE65) develop retinopathy and blindness resembling Leber congenital amaurosis...
  95. doi P63 differentiates subtypes of nonsmall cell carcinomas of lung in cytologic samples: implications in treatment selection
    Merce Jorda
    Jackson Memorial Hospital, Miami, Florida
    Cancer 117:46-50. 2009
    ..The aim of this study was to identify the value of p63 immunocytochemical analysis in this distinction.
  96. pmc Gene therapy following subretinal AAV5 vector delivery is not affected by a previous intravitreal AAV5 vector administration in the partner eye
    Wensheng Li
    Eye Hospital, School of Optometry and Ophthalmology, Wenzhou Medical College, Wenzhou, China
    Mol Vis 15:267-75. 2009
    ..vector transduction is altered by a previous intravitreal injection in the partner eye and more importantly whether therapeutic efficiency is altered in the rd12 mouse (with a recessive RPE65 mutation) after the same injection series.
  97. ncbi Expression of the p53 homologues p63 and p73 in multiple simultaneous gastric cancer
    A Tannapfel
    Institute of Pathology, University of Leipzig, Germany
    J Pathol 195:163-70. 2001
    ..protein p53 has recently been shown to belong to a family that includes two structurally related proteins, p63 and p73...
  98. pmc Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65
    Yusuke Takahashi
    Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
    J Biol Chem 284:3211-8. 2009
    b>RPE65 is a membrane-associated protein abundantly expressed in the retinal pigment epithelium, which converts all-trans-retinyl ester to 11-cis-retinol, a key step in the retinoid visual cycle...
  99. ncbi [CXCR4 combined with P504S or P63 in differential diagnosis of benign and malignant prostatic diseases]
    Feng Qu
    Department of Urology, Drum Tower Hospital Affiliated to Nanjing University School of Medicine, Nanjing, Jiangsu 210008, China
    Zhonghua Nan Ke Xue 14:1059-62. 2008
    To evaluate the application of CXC chemokine receptor-4 (CXCR4) combined with alpha-methylacyl-CoA racemase (P504S) or P63 protein in the differential diagnosis of benign and malignant prostatic diseases.
  100. pmc A subset of tumor-derived mutant forms of p53 down-regulate p63 and p73 through a direct interaction with the p53 core domain
    C Gaiddon
    Department of Biological Sciences, Columbia University, New York, New York 10027, USA
    Mol Cell Biol 21:1874-87. 2001
    The p53 protein is related by sequence homology and function to the products of two other genes, p63 and p73, that each encode several isoforms...
  101. pmc The evolution of MDM2 family genes
    Jamil Momand
    Department of Chemistry and Biochemistry, California State University Los Angeles, 90032, USA
    Gene 486:23-30. 2011
    ..and MDM4 are proto-oncoproteins that bind to and inhibit members of the p53 protein family, p53, p73 and possibly p63. p53 is a mammalian tumor suppressor and p63 and p73 are critical for development...

Research Grants73

  1. MODELS OF HEREDITY RETINAL DEGENERATION
    Gregory Acland; Fiscal Year: 2004
    ..rod-cone degeneration prcd, early retinal degeneration erd, cone degeneration cd, and the newly available RPE65 mutant dog strain), together with appropriate nonaffected control dogs, will be bred and maintained...
  2. Biochemical and Genetic Analysis of the Visual Cycle
    GABRIEL TRAVIS; Fiscal Year: 2007
    ..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...
  3. STUDIES OF RPE65
    Jian Xing Ma; Fiscal Year: 2004
    Protein RPE65 plays a role in recycling of 11-cis retinal and thus, is essential for regeneration of visual pigments in photoreceptors. Defects in RPE65 genes are associated with several forms of retinal dystrophies...
  4. STUDIES OF RPE65
    Jian Xing Ma; Fiscal Year: 2010
    ..b>RPE65 is a membrane-associated protein predominantly expressed in the retinal pigment epithelium (RPE)...
  5. Cytoplasmic Reactivation of p53 Family Members
    Charles Walker; Fiscal Year: 2004
    ..leukemia in the soft-shell clam, Mya arenaria, in which clam homologs that we have identified for human p53 and p63/73 proteins are rendered non-functional by their sequestration in the cytoplasm of leukemic clam hemocytes...
  6. Retinyl Ester Binding Proteins and the Visual Cycle
    Robert Rando; Fiscal Year: 2007
    ..the membrane associated form (mRPE65) which stereospecifically binds tREs and the soluble form of this protein (sRPE65) is shown to stereospecifically bind vitamin A with high affinity...
  7. P63/IGFBP3/BCL2 Control of Corneal Epithelial Homeostasis
    DANIELLE ROBERTSON; Fiscal Year: 2009
    ....
  8. P63/IGFBP3/BCL2 Control of Corneal Epithelial Homeostasis
    Danielle M Robertson; Fiscal Year: 2010
    ....
  9. Characterization of the Desmosome Protein Perp
    LAURA ATTARDI; Fiscal Year: 2007
    ..Using knockout mice, we recently identified the Perp tetraspan membrane protein as a component of the p63 stratified epithelial development program, where it plays an essential role in desmosome function and epithelial ..
  10. Mechanisms regulating prostate epithelium maintenance and regeneration
    Sabina Signoretti; Fiscal Year: 2010
    ..The p63 gene is selectively expressed in basal cells of various epithelia and is required for epithelial development...
  11. Characterization of the Desmosome Protein Perp
    Laura D Attardi; Fiscal Year: 2010
    ..Using knockout mice, we recently identified the Perp tetraspan membrane protein as a component of the p63 stratified epithelial development program, where it plays an essential role in desmosome function and epithelial ..
  12. STUDIES OF RPE65
    Jian Xing Ma; Fiscal Year: 2007
    ..b>RPE65 is a protein predominantly expressed in the RPE and essential for regeneration of 11-cis retinal...
  13. STUDIES OF RPE65
    Jian Xing Ma; Fiscal Year: 2009
    ..b>RPE65 is a protein predominantly expressed in the RPE and essential for regeneration of 11-cis retinal...
  14. RETINAL PATHOPHYSIOLOGY OF INFANTS AND ADULTS
    David Birch; Fiscal Year: 2005
    ..As in the abcr-/- and rpe65-/- models, these studies should help clarify the underlying defect and lead to pharmaceutical interventions...
  15. PHYSIOLOGY OF PHOTORECEPTORS
    GORDON LEE FAIN; Fiscal Year: 2010
    ..either to lack certain transduction proteins such as the guanylyl cyclase activating proteins (GCAPs) or the RPE65 retinal isomerase, or to contain transduction proteins with site-directed mutations, such as phosphodiesterase ..
  16. SYNTHETIC RETINAL PIGMENTS AND BINDING PROTEINS
    Rosalie Crouch; Fiscal Year: 2005
    ..on the study of the interaction of this ligand with the various rod and cone opsins and the role of one protein, RPE65, which is critical for the generation of the form of retinal that binds to those opsins, the 11-cis isomer...
  17. REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMIS
    DENNIS ROOP; Fiscal Year: 2010
    ..We have recently demonstrated that the transcription factor p63 is the molecular switch for initiation of the epidermal stratification program...
  18. MECHANISMS OF VISUAL TRANSDUCTION
    EDWARD PUGH; Fiscal Year: 2005
    ..the cellular all-trans retinal dehydrogenase, and the retinal pigment epithelium dioxygenase homologue, RPE65. The research will impact on visual health as follows...
  19. p63-Dependent Checkpoints in Oocytes
    Frank D McKeon; Fiscal Year: 2010
    ..How DNA damage triggers the death of these arrested oocytes is poorly understood but we now know that p63, a homolog of the p53 tumor suppressor, is highly expressed in these oocytes and plays an essential role in their ..
  20. ROLE OF PI3 KINASE AND ITS DOWNSTREAM TARGET BCL-XL IN RPE
    YUN LE; Fiscal Year: 2002
    ..Therefore, I propose 1) to generate and characterize transgenic mice expressing RPE-specific Cre driven by RPE65 promoter; 2) to generate RPE-specific PI3K and/or Bcl-x null mice and test the hypothesis that PI3K and BCl-xL are ..
  21. Biochemical and Genetic Analysis of the Visual Cycle
    GABRIEL TRAVIS; Fiscal Year: 2009
    ..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...
  22. RETINAL GENE DELIVERY BY ADENO-ASSOCIATED VIRUS
    William Hauswirth; Fiscal Year: 2009
    ..disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..
  23. RETINAL GENE DELIVERY BY ADENO-ASSOCIATED VIRUS
    William Hauswirth; Fiscal Year: 2007
    ..Stargardt's disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..
  24. Role of PUMA in EGFR targeted therapy in HNSCC
    Jian Yu; Fiscal Year: 2010
    ..Furthermore, EGFR TKIs induce PUMA through the effects on the p53 family members p63 and p73, but not p53 itself...
  25. Molecular etiology of cervicovaginal adenosis by in utero hormone exposure
    Takeshi Kurita; Fiscal Year: 2010
    ..demonstrated that developmental exposure to DES induces cervical/vaginal adenosis by disrupting expression of p63 transcription factor, which is essential for development of squamous epithelia...
  26. Clinical trials of gene therapy for Leber congenital amaurosis
    Samuel Jacobson; Fiscal Year: 2007
    ..gene delivery to the retina of patients with blindness from Leber congenital amaurosis (LCA) and mutations in the RPE65 (retinal pigment epithelium-specific protein 65-kDa) gene...